Canonical Allele Identifier: CA2838752695

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224729A>G , CM000679.2:g.7224729A>G	GRCh38
NC_000017.10:g.7128048A>G , CM000679.1:g.7128048A>G	GRCh37
NC_000017.9:g.7068772A>G	NCBI36
NG_007975.1:g.9896A>G
NG_008391.2:g.322T>C
NG_033038.1:g.14816T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1751+15A>G MANE Select	ENSP00000349297.5:n.1751+15A>G
ENST00000322910.9:c.*1706+15A>G	ENSP00000325395.5:n.*1706+15A>G
ENST00000350303.9:c.1685+15A>G	ENSP00000344152.5:n.1685+15A>G
ENST00000356839.9:c.1751+15A>G	ENSP00000349297.5:n.1751+15A>G
ENST00000542255.6:c.551A>G
ENST00000543245.6:c.1820+15A>G	ENSP00000438689.2:n.1820+15A>G
ENST00000578033.1:n.97A>G
ENST00000578319.5:n.332+15A>G
ENST00000578711.1:n.1225A>G
ENST00000578809.5:n.323+15A>G
ENST00000579425.5:n.867+15A>G
ENST00000579546.1:c.486+15A>G
ENST00000583074.5:n.314A>G
ENST00000583848.5:c.117+15A>G	ENSP00000466487.1:n.117+15A>G
ENST00000583850.5:n.522+15A>G
ENST00000583858.5:c.682+15A>G
ENST00000585203.6:n.942+15A>G
NM_000018.3:c.1751+15A>G	NP_000009.1:n.1751+15A>G
NM_001033859.2:c.1685+15A>G	NP_001029031.1:n.1685+15A>G
NM_001270447.1:c.1820+15A>G	NP_001257376.1:n.1820+15A>G
NM_001270448.1:c.1523+15A>G	NP_001257377.1:n.1523+15A>G
XM_006721516.2:c.1693A>G	XP_006721579.2:p.Arg565Gly
XM_011523829.1:c.1591A>G	XP_011522131.1:p.Arg531Gly
XM_011523830.1:c.1649+15A>G	XP_011522132.1:n.1649+15A>G
XR_934021.1:n.1854+15A>G
XR_934022.1:n.1760+15A>G
XR_934023.1:n.1702A>G
XM_006721516.3:c.1693A>G	XP_006721579.2:p.Arg565Gly
XM_011523829.2:c.1591A>G	XP_011522131.1:p.Arg531Gly
XM_011523830.2:c.1649+15A>G	XP_011522132.1:n.1649+15A>G
XM_024450741.1:c.1739+15A>G	XP_024306509.1:n.1739+15A>G
XR_934021.2:n.1806+15A>G
XR_934022.2:n.1712+15A>G
XR_934023.2:n.1654A>G
NM_000018.4:c.1751+15A>G MANE Select	NP_000009.1:n.1751+15A>G
NM_001033859.3:c.1685+15A>G	NP_001029031.1:n.1685+15A>G
NM_001270447.2:c.1820+15A>G	NP_001257376.1:n.1820+15A>G
NM_001270448.2:c.1523+15A>G	NP_001257377.1:n.1523+15A>G